Results 131 to 140 of about 5,460 (176)

Homozygous Methylenetetrahydrofolate Reductase C677T Mutation and Male Infertility

New England Journal of Medicine, 2001
To the Editor: Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The C677T in the gene that encodes MTHFR decreases the activity of the enzyme by 35 percent in persons who are heterozygous for the mutation and by 70 percent in those who are homozygous.1 The prevalence of ...
M Lange
exaly   +3 more sources

Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population

Irish Journal of Medical Science, 2002
The genetic variation which underlies the thermolability and low enzyme activity of 5,10-methylenetetrahydrofolate reductase (MTHFR; C677T) has been extensively studied in many populations, including the Irish population.To describe the examination of the C677T substitution in two new control samples drawn from the Irish population.A collection of 487 ...
Mynett-Johnson, L A, Black, I L, Livingstone, W J, Lawler, M, Roche, H M, White, B, Gibney, M J, McKeon, P, Smith, O P, Lawler, Mark   +9 more
openaire   +3 more sources

MTHFR C677T Polymorphism and Osteoporotic Fractures

Hormone and Metabolic Research, 2007
The C677T (rs1801133) polymorphism of MTHFR (methylenetetrahydrofolate reductase) has been associated with the risk of cardiovascular events, and also with osteoporosis in some studies. However, the results are controversial. Our objective was to determine the relationship of the polymorphism with osteoporotic fractures by means of a case-control study.
C, Valero, M A, Alonso, M T, Zarrabeitia, C, Viadero, J L, Hernández, J A, Riancho   +5 more
openaire   +2 more sources

Methylenetetrahydrofolate reductase C677T genotype and PD

Annals of Neurology, 2005
AbstractIn a prospective, population‐based cohort study among 5,920 participants aged 55 years or older, we observed that the TT variant of the methylenetetrahydrofolate reductase C677T polymorphism is associated with an increased risk for Parkinson's disease in smokers.
Lau, Lonneke, Koudstaal, Peter, van Meurs, Joyce, Uitterlinden, André, Hofman, Bert, Breteler, Monique   +5 more
openaire   +3 more sources

Methylenetetrahydrofolate Reductase C677T

World Journal for Pediatric and Congenital Heart Surgery, 2015
The incidence of congenital heart defects is higher in infants with mutation of methylenetetrahydrofolate reductase ( MTHFR) gene. The MTHFR C677T gene decreases the bioavailability of folate and increases plasma homocysteine, a risk factor for thrombosis.
Kimberly J, Spronk, Anthony D, Olivero, Marcus P, Haw, Joseph J, Vettukattil   +3 more
openaire   +2 more sources

No association of the C677T methylenetetrahydrofolate reductase polymorphism with schizophrenia

Psychiatric Genetics, 2006
Some serological and genetic studies have suggested that alterations in folate metabolism are associated with increased vulnerability to schizophrenia. In particular, these findings are most striking for the role of a putatively functional variant (C677T) in the methylenetetrahydrofolate reductase (MTHFR) gene.
Robert, Philibert, Tracy, Gunter, Nancy, Hollenbeck, William J, Adams, Phillip, Bohle, Hans, Packer, Harinder, Sandhu   +6 more
openaire   +2 more sources

Methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy

Ophthalmic Genetics, 2018
Dear Editor, the report on “Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic retinopathy (DR)” is very interesting (1). Chen et al.
Beuy, Joob, Viroj, Wiwanitkit
openaire   +2 more sources

Methylene tetrahydrofolate reductase C677T genotype and stroke

Clinical & Laboratory Haematology, 1998
High levels of homocysteine are associated with atherosclerosis. A thermolabile form of the enzyme methylene tetrahydrofolate reductase (MTHFR) has been proposed as a major cause of a genetic predisposition to hyperhomocysteinaemia and a point mutation at nucleotide 677 of the MTHFR gene causing a thermolabile MTHFR has been described.
N, Salooja, A, Catto, A, Carter, E G, Tudenham, P J, Grant   +4 more
openaire   +2 more sources

Methylenetetrahydrofolate Reductase C677T Polymorphism and Pregnancy Complications

Obstetrics & Gynecology, 2007
To investigate the frequency of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in women with intrauterine fetal death, preeclampsia, preterm delivery, and small for gestational age (SGA) infants.In a prospective cohort study, DNA from 2,000 pregnant women were analyzed for MTHFR C677T by DNA microarray (wild-type allele, C; mutant ...
Felix, Stonek, Erich, Hafner, Karl, Philipp, Lukas A, Hefler, Eva-Katrin, Bentz, Clemens B, Tempfer   +5 more
openaire   +2 more sources

MTHFR (methylenetetrahydrofolate reductase) C677T polymorphism and psoriasis

Clinical and Experimental Medicine, 2009
The aim of the study was to evaluate possible association of MTHFR C677T gene polymorphism (NM_005957) with psoriasis. Genotypes of MTHFR C677T gene polymorphism were determined in a sample of 654 Caucasian (Czech) subjects. Case group (n = 410) included patients with psoriasis (plaque psoriasis diagnosed in 285 patients, other subtypes of psoriasis ...
Vladimir, Vasku, Julie, Bienertova-Vasku, Miroslav, Necas, Anna, Vasku   +3 more
openaire   +2 more sources